Exercise-induced muscle "burning," fatigue, and hyper-CKemia:: mtDNA T10010C mutation in tRNAGly

被引：20

作者：

Nishigaki, Y

Bonilla, E

Shanske, S

Gaskin, DA

DiMauro, S

Hirano, M

机构：

[1] Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA

[2] Univ Calif San Francisco, Dept Pathol, San Francisco, CA USA

来源：

NEUROLOGY | 2002年 / 58卷 / 08期

关键词：

D O I：

10.1212/WNL.58.8.1282

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A 42-year-old woman presented with myopathy and without a family history of neuromuscular disorder. Muscle biopsy showed ragged red fibers and reduced activities of mitochondrial respiratory chain enzyme complexes I, III, and IV. Analysis of mitochondrial DNA revealed a heteroplasmic T10010C mutation in the transfer RNA glycine gene.

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页码：1282 / 1285

页数：4

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